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Aliases for SEMA4C Gene

Aliases for SEMA4C Gene

  • Semaphorin 4C 2 3 5
  • Sema Domain, Immunoglobulin Domain (Ig), Transmembrane Domain (TM) And Short Cytoplasmic Domain, (Semaphorin) 4C 2 3
  • M-Sema F 2 3
  • SEMAI 3 4
  • Semaphorin-4C 3
  • M-SEMA-F 3
  • KIAA1739 4
  • SEMACL1 3
  • SEMAF 3

External Ids for SEMA4C Gene

Previous HGNC Symbols for SEMA4C Gene

  • SEMAI

Previous GeneCards Identifiers for SEMA4C Gene

  • GC02M095302
  • GC02M095979
  • GC02M096993
  • GC02M097010
  • GC02M096947
  • GC02M097525
  • GC02M091485

Summaries for SEMA4C Gene

GeneCards Summary for SEMA4C Gene

SEMA4C (Semaphorin 4C) is a Protein Coding gene. Diseases associated with SEMA4C include Retinitis Pigmentosa 33. Among its related pathways are Axon guidance. Gene Ontology (GO) annotations related to this gene include receptor activity. An important paralog of this gene is SEMA4G.

UniProtKB/Swiss-Prot for SEMA4C Gene

  • Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at Tyr-1248. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.

Gene Wiki entry for SEMA4C Gene

Additional gene information for SEMA4C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEMA4C Gene

Genomics for SEMA4C Gene

GeneHancer (GH) Regulatory Elements for SEMA4C Gene

Promoters and enhancers for SEMA4C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I096866 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.9 +2.1 2057 5.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 SEMA4C ANKRD36 FAM178B LMAN2L SNRNP200 GPAT2P2 C2orf92 ANKRD36B ANKRD39 GC02P096839
GH02I096871 Enhancer 0.5 ENCODE dbSUPER 550.8 -0.8 -847 0.2 ZBTB33 SEMA4C GC02P096839 LOC101927053
GH02I096800 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.6 +69.9 69901 1.4 HDGF ELF3 ZSCAN4 ARID4B SIN3A YBX1 ZNF2 ZNF48 ZSCAN9 RAD21 SNRNP200 LMAN2L KANSL3 SEMA4C ANKRD36 CNNM4 CNNM3 ANKRD36B STARD7-AS1 MIR3127
GH02I096856 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 +12.4 12428 3.7 HDGF HNRNPUL1 PKNOX1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ANKRD23 ANKRD39 SNRNP200 KANSL3 STARD7-AS1 ANKRD36 SEMA4C LMAN2L GC02P096839
GH02I096206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 +662.2 662205 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B STARD7-AS1 STARD7 KANSL3 SNRNP200 ANKRD36 LMAN2L CNNM3 SEMA4C GPAT2 CIAO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEMA4C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEMA4C gene promoter:

Genomic Locations for SEMA4C Gene

Genomic Locations for SEMA4C Gene
chr2:96,859,716-96,870,943
(GRCh38/hg38)
Size:
11,228 bases
Orientation:
Minus strand
chr2:97,525,453-97,536,494
(GRCh37/hg19)

Genomic View for SEMA4C Gene

Genes around SEMA4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEMA4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEMA4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEMA4C Gene

Proteins for SEMA4C Gene

  • Protein details for SEMA4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0C4-SEM4C_HUMAN
    Recommended name:
    Semaphorin-4C
    Protein Accession:
    Q9C0C4
    Secondary Accessions:
    • Q32MJ3
    • Q7Z5X0

    Protein attributes for SEMA4C Gene

    Size:
    833 amino acids
    Molecular mass:
    92623 Da
    Quaternary structure:
    • Interacts (via the PDZ-binding motif) with GIPC (via the PDZ domain) (By similarity). Interacts with NCDN (By similarity). Interacts (via the PDZ-binding motif) with DLG4. Interacts with PLXNB2 (By similarity).

neXtProt entry for SEMA4C Gene

Post-translational modifications for SEMA4C Gene

  • Ubiquitination at posLast=744744
  • Glycosylation at posLast=106106, isoforms=121, posLast=310310, isoforms=419, posLast=522522, and isoforms=564

No data available for DME Specific Peptides for SEMA4C Gene

Domains & Families for SEMA4C Gene

Gene Families for SEMA4C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SEMA4C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0C4

UniProtKB/Swiss-Prot:

SEM4C_HUMAN :
  • Belongs to the semaphorin family.
Family:
  • Belongs to the semaphorin family.
genes like me logo Genes that share domains with SEMA4C: view

Function for SEMA4C Gene

Molecular function for SEMA4C Gene

UniProtKB/Swiss-Prot Function:
Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at Tyr-1248. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.

Gene Ontology (GO) - Molecular Function for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0038191 NOT neuropilin binding IBA --
genes like me logo Genes that share ontologies with SEMA4C: view
genes like me logo Genes that share phenotypes with SEMA4C: view

Animal Models for SEMA4C Gene

MGI Knock Outs for SEMA4C:

Animal Model Products

miRNA for SEMA4C Gene

miRTarBase miRNAs that target SEMA4C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEMA4C Gene

Localization for SEMA4C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEMA4C Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEMA4C gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,HDA 22664934
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEMA4C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEMA4C Gene

Pathways & Interactions for SEMA4C Gene

SuperPathways for SEMA4C Gene

SuperPathway Contained pathways
1 Axon guidance
genes like me logo Genes that share pathways with SEMA4C: view

Pathways by source for SEMA4C Gene

1 KEGG pathway for SEMA4C Gene

Gene Ontology (GO) - Biological Process for SEMA4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure ISS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0021535 cell migration in hindbrain IEA,ISS --
GO:0021549 cerebellum development IEA --
genes like me logo Genes that share ontologies with SEMA4C: view

No data available for SIGNOR curated interactions for SEMA4C Gene

Drugs & Compounds for SEMA4C Gene

No Compound Related Data Available

Transcripts for SEMA4C Gene

Unigene Clusters for SEMA4C Gene

Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEMA4C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18
SP1: - - - -
SP2: - -
SP3: -
SP4: - - -
SP5: -
SP6: -

Relevant External Links for SEMA4C Gene

GeneLoc Exon Structure for
SEMA4C
ECgene alternative splicing isoforms for
SEMA4C

Expression for SEMA4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEMA4C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEMA4C Gene

This gene is overexpressed in Fetal Brain (23.6), Heart (17.9), Spleen (7.3), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEMA4C Gene



NURSA nuclear receptor signaling pathways regulating expression of SEMA4C Gene:

SEMA4C

SOURCE GeneReport for Unigene cluster for SEMA4C Gene:

Hs.516220

Evidence on tissue expression from TISSUES for SEMA4C Gene

  • Nervous system(4.6)
  • Muscle(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with SEMA4C: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEMA4C Gene

Orthologs for SEMA4C Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEMA4C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEMA4C 33 34
  • 96.36 (n)
dog
(Canis familiaris)
Mammalia SEMA4C 33 34
  • 88.4 (n)
cow
(Bos Taurus)
Mammalia SEMA4C 33 34
  • 87.43 (n)
mouse
(Mus musculus)
Mammalia Sema4c 33 16 34
  • 85.35 (n)
oppossum
(Monodelphis domestica)
Mammalia SEMA4C 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sema4c 33
  • 84.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEMA4C 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 34 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SEMA4C 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sema4c 33
  • 62.89 (n)
zebrafish
(Danio rerio)
Actinopterygii sc:d411 33
  • 60.49 (n)
SEMA4C 34
  • 54 (a)
OneToOne
sema4e 33
Species where no ortholog for SEMA4C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEMA4C Gene

ENSEMBL:
Gene Tree for SEMA4C (if available)
TreeFam:
Gene Tree for SEMA4C (if available)

Paralogs for SEMA4C Gene

Variants for SEMA4C Gene

Sequence variations from dbSNP and Humsavar for SEMA4C Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000187051 -- 96,860,101(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000467649 -- 96,861,346(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1000633827 -- 96,868,084(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000674321 -- 96,867,259(-) C/T intron_variant
rs1000676799 -- 96,867,050(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEMA4C Gene

Variant ID Type Subtype PubMed ID
nsv526313 CNV loss 19592680
nsv1135873 CNV deletion 24896259
esv5003 OTHER complex 18987735
esv3425717 CNV duplication 20981092
dgv607e201 CNV deletion 23290073

Variation tolerance for SEMA4C Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEMA4C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEMA4C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEMA4C Gene

Disorders for SEMA4C Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEMA4C Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 33
  • rp33
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEMA4C

genes like me logo Genes that share disorders with SEMA4C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEMA4C Gene

Publications for SEMA4C Gene

  1. Sema4C participates in myogenic differentiation in vivo and in vitro through the p38 MAPK pathway. (PMID: 17498836) Wu H … Fan M (European journal of cell biology 2007) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Identification of a member of mouse semaphorin family. (PMID: 7656991) Inagaki S … Iwahashi Y (FEBS letters 1995) 2 3 58

Products for SEMA4C Gene

Sources for SEMA4C Gene

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